Bateson and the Doctors: The Introduction of Mendelian Genetics to the British Medical Community 1900–1910

Abstract

William Bateson of Cambridge was the leading proponent of Mendelian genetics in England after 1900. His studies demonstrated segregation of inherited characters in both animal and plant species. Bateson was also asked to evaluate pedigrees of families collected by physicians in which various diseases appeared to be transmitted from one generation to the next. Bateson and Archibald Garrod collaborated on the analysis of alkaptonuria, a rare disorder of metabolism, often found in individuals who had first-cousin parents. This was consistent with recessive inheritance. Other metabolic disorders such as albinism, cystinuria, and pentosuria also followed the Mendelian recessive pattern for inheritance. However, Bateson found that other human diseases did not exhibit such clear examples of Mendelian inheritance. The ophthalmologist Edward Nettleship sent him detailed pedigrees from families with a host of inherited eye diseases. Stationary night blindness, glaucoma, and cataract were dominant. Retinitis pigmentosa demonstrated two forms of inheritance. In certain families, a dominant pattern was evident, while in other examples, a recessive inheritance pattern was observed. Alfred Gossage also sent Bateson family histories of heterochroma irides, exostoses, myotonia congenita, cleidocranial dysostosis, and tylosis palmaris et plantaris; all demonstrated dominant inheritance. George Mudge of the London Hospital Medical College worked with Bateson on the heredity of eye color and then organized a course for the students at his college on inheritance in clinical practice. The two also collaborated to establish The Mendel Journal in October 1908 to publicize the importance of Mendel’s laws for the understanding of inheritance in all living species. The Scottish physician Harry Drinkwater sent Bateson pedigrees with asthma and brachydactyly; all were consistent with the segregation of dominant traits. Redcliffe Salaman collected data from Jewish families with a rare neurologic disorder amaurotic family idiocy (Tay–Sachs disease). The reappearance of the character in an inbred population was consistent with a recessive segregation pattern. The Royal Society of Medicine sponsored a conference titled “Heredity and Disease” in November 1908. Bateson acknowledged the assistance of his medical colleagues in collecting well-documented pedigrees that indeed illustrated the Mendelian segregation of many human characters. He noted chorea, ectopia lentis, distichiasis, ptosis, and brachydactyly as examples of dominant traits. Albinism and alkaptonuria were often evident in consanguineous families as expected for recessive disorders. Hemophilia, muscular dystrophy, and color blindness followed the unusual pattern of affected males with unaffected female carriers that fit the pattern for sex-limited segregation. By the end of the first decade of the twentieth century, Bateson and his medical colleagues had successfully communicated in understandable terms the important role for Mendelian heredity in providing workable solutions to the riddle of human heredity.